Conditions / Syndrome
ectodermal dysplasia 12
info · Syndrome
A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11.
Signs and symptoms
- Orthokeratosis
- Acne inversa
- Palmar hyperlinearity
- Concave nasal ridge
- Hypoplastic sweat glands
- Hypohidrosis
- Sparse lateral eyebrow
- Keratosis pilaris
- Nail dystrophy
- Subungual hyperkeratosis
Also known as: ECTD12; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type